The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population

The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population

PurposeVon Hippel-Lindau (VHL) disease is a hereditary kidney cancer syndrome, with which patients are more likely to get affected by renal cell carcinoma (RCC), pancreatic cyst or tumor (PCT), central nervous system hemangioblastoma (CHB), retinal angiomas (RA), and pheochromocytoma (PHEO). Mutatio...

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Bibliographic Details
Main Authors: Jianhui Qiu, Kenan Zhang, Kaifang Ma, Jingcheng Zhou, Yanqing Gong, Lin Cai, Kan Gong
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Genetics
Subjects:
Von Hippel-Lindau disease
genotype-phenotype
hypoxia-inducible factor α
tumor risk
elongin C
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.532588/full

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